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Links from MedGen

Items: 1 to 100 of 2640

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1A
(L1697fs +3 more)
Duplication
(frameshift variant)
Episodic ataxia type 2
GLikely pathogenic
CACNA1A
(L1667fs +3 more)
Deletion
(frameshift variant)
Episodic ataxia type 2
GPathogenic
CACNA1A
Microsatellite
(splice acceptor variant)
Episodic ataxia type 2
+1 more
GPathogenic
CACNA1A
(R1025fs +2 more)
Duplication
(frameshift variant)
Episodic ataxia type 2
GPathogenic
CACNA1A
(G2043V +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
GUncertain significance
CACNA1A
(G156V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(D927fs +2 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 42
+1 more
GPathogenic
CACNA1A
(D1535E +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(I1724M +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(E982K +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(E463K +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(M59del)
Deletion
(inframe_deletion)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(F1685S +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(G2071fs +3 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 42
+1 more
GPathogenic
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(R279S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(P1861T)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(A1786S +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Duplication
(inframe_insertion)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(C1248del +2 more)
Deletion
(inframe_deletion)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(A1836T +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A, LOC130063717
(G2252A +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(R803fs +2 more)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 42
+1 more
GPathogenic
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(F453fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 42
+1 more
GPathogenic
CACNA1A
(A841P +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A, LOC126862864
(A1391V +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GPathogenic
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GBenign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(P1825S +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(H935R +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(L324fs)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 42
+1 more
GPathogenic
CACNA1A
(E96*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 42
+1 more
GPathogenic
CACNA1A
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 42
+1 more
GPathogenic
CACNA1A
(F146fs)
Insertion
(frameshift variant)
Developmental and epileptic encephalopathy, 42
+1 more
GPathogenic
CACNA1A
(A747E +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Deletion
(inframe_deletion)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(T844I +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(D517A +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(P128L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(P1217S +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(M1584del +2 more)
Microsatellite
(inframe_deletion)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(V199A)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(D714H +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely pathogenic
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(A885fs +2 more)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 42
+1 more
GPathogenic
CACNA1A, LOC126862864
Microsatellite
(frameshift variant)
Developmental and epileptic encephalopathy, 42
+1 more
GPathogenic
CACNA1A, LOC126862865
(I1315V +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(A1664G +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(D2136E +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(A1981D +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(E267G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely pathogenic
CACNA1A
(T1937S +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 42
+1 more
GPathogenic
CACNA1A
(G2179D +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(V1807I +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(T1229A +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(F417fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 42
+1 more
GPathogenic
CACNA1A
(T2171I +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
(D1851Y)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(G877D +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(P1172L +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(F628L +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
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